Search PubMed⌕ Search

Biomedical subjects

N Dudley

Publications and source records attributed to N Dudley.

At least 19 recordsLinked to original sources
PubMed2006

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

OBJECTIVE: To investigate two patients with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT-JT, 2 FIHP and 27 sporadic) for HRPT2 mutations. The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31.2. HRPT2 encodes a 531 amino acid protein, parafibromin, which interacts with human homologues of the yeast Paf1 complex. DESIGN: Leukocyte and tumor DNA was used with HRPT2-specific primers for polymerase chain reaction amplification of the 17 exons and their splice junctions, and the DNA sequences of the polymerase chain reaction products determined. RESULTS: Three heterozygous germline HRPT2 mutations, two in HPT-JT and one in FIHP patients, were identified. These consisted of one 1-bp duplication (745dup1bp), 1 nonsense (Arg234Stop) and 1 missense (Asp379Asn) mutation. One parathyroid tumour from an FIHP patient was demonstrated to harbour a germline deletion of 1 bp together with a somatic missense (Leu95Pro) mutation, consistent with a 'two-hit' model for hereditary cancer. The 27 sporadic benign parathyroid tumours did not harbour any HRPT2 somatic mutations. Six HRPT2 polymorphisms with allele frequencies ranging from 2% to 15% were detected. CONCLUSIONS: Our results have identified three novel HRPT2 mutations (two germline and one somatic). The Asp379Asn mutation is likely to disrupt interaction with the human homologue of the yeast Paf1 complex, and the demonstration of combined germline and somatic HRPT2 mutations in a parathyroid tumour provide further evidence for the tumour suppressor role of the HRPT2 gene.

Adult↗
PubMed2004

Older people's understanding of cumulative risks when provided with annual stroke risk information.

Understanding how cumulative health risks increase over time constitutes an important part of decision making about treatment risks and benefits. In this study, wide ranging perceptions of cumulative risk led to significant overestimation and underestimation of risks over time. Time has shown to significantly impact on the personal interpretation of cumulative risk information by patients, with many subjects struggling to understand the concept of cumulative risks. This suggests that a careful explanation of the effect of cumulative risk over time to patients should contribute to more effective decision making.

Aged↗
PubMed2002

How informed is consent? Understanding of pictorial and verbal probability information by medical inpatients.

Understanding probability information about treatment risks and benefits is a vital component of patients' decision making capacity. This study demonstrates extensive misunderstanding of verbal descriptions of probability by medical inpatients of all ages, questioning the extent of their capacity for giving informed consent. Pictorial descriptions of probability were well understood, suggesting their adoption into clinical practice.

Aged↗
PubMed2001

Risk communication and older people-understanding of probability and risk information by medical inpatients aged 75 years and older.

OBJECTIVE: To determine older people's understanding of probability and risk information, and the impact of pictorial representation of risk. DESIGN: A researcher-administered questionnaire. SUBJECTS: 50 inpatients aged > or =75 years on elderly medicine wards at Huddersfield Royal Infirmary, Huddersfield, UK. RESULTS: Older people understand percentage probability better than fractional probability, and a wide range of incorrect responses indicated significant over- and underestimation of probabilities. Visual data about percentages were well received and understood, and were perceived as a good idea by participants. CONCLUSIONS: We have demonstrated a wide variation in understanding of risk and probability information by older people, with over- and underestimations of probability, along with confusion between fractional and percentage probability. Pictorial representation of probability was well understood. It could be developed as a simple, yet powerful communication tool to be used in daily clinical practice to help older people understand information on risks and benefits when making decisions about treatment choices.

Aged↗
PubMed2001

Equity in access to exercise tolerance testing, coronary angiography, and coronary artery bypass grafting by age, sex and clinical indications.

OBJECTIVES: To assess whether patients with heart disease in a single UK hospital have equitable access to exercise testing, coronary angiography, and coronary artery bypass graft surgery (CABG). METHOD: Retrospective analysis of patients' medical case notes (n = 1790), tracking each case back 12 months and forward 12 months from the patient's date of entry to the study. SETTING: Single UK district hospital in the Thames Region. PATIENTS: Patients (elective and emergency) with a cardiac ICD inpatient code at discharge or death, or who were referred to cardiology or care of the elderly unit over a 12 month period in 1996-7 (new episodes) were included. RESULTS: Analysis of 1790 hospital case notes revealed that, despite having indications for intervention identical to those of younger patients, older patients (that is, those aged > 75 years) and women, independently, were significantly less likely to undergo exercise tolerance testing (exercise ECG) and cardiac catheterisation. The similar trends for age and access to CABG did not achieve significance. While clinical priority scores also independently predicted access to cardiac catheterisation and CABG, considerable numbers of patients in high clinical priority groups were not referred for either procedure. CONCLUSIONS: The management and treatment of older patients and women with cardiac disease may be different from that of younger patients and men. Given the similarity of the indications for treatment and the lack of significant contraindications or comorbidities as a cause for these differences, one possible explanation is that these patients are being discriminated against principally because of their age and sex. Although clinical priority scores independently predicted access to catheterisation and CABG, large proportions of patients in high priority groups were not referred. This implies that the New Zealand priority scoring system may be more equitable than UK practice. The cost implications of redressing these inequities in service provision would be considerable.

Age Factors↗
PubMed2001

Importance of risk communication and decision making in cardiovascular conditions in older patients: a discussion paper.

Atrial fibrillation and aortic stenosis commonly present doctors and patients with difficult decisions about the risks and benefits of treatment options and are both often inappropriately undertreated. Patients may be confused by risk information and doctors may be aware of patients' limitations and use this to manipulate choices to the ones desired by the doctors. This paper examines the importance of risk communication and discusses difficulties that can arise in decision making in these two common cardiovascular conditions.

Aged↗
PubMed1990

Leptospirosis presenting as a flaccid paraplegia.

A fatal case of leptospirosis in a 64 year old farm worker is described. The dramatic neurological presentation with a rapidly evolving flaccid paraplegia associated with biochemical evidence of renal and hepatic dysfunction is discussed. Attention is drawn to the wide range of neurological symptoms reported in leptospirosis, and to the possibility that this infectious disease may present neurologically.

Humans↗
PubMed1989

Haemochromatosis and aldosterone deficiency presenting with Yersinia pseudotuberculosis septicaemia.

A 50 year old man presented with a pyrexial illness following a holiday abroad. Yersinia pseudotuberculosis was isolated from blood culture. Response to appropriate antibiotic therapy was prompt and complete, but full recovery was complicated by an episode of hyperkalaemia, hyponatraemia and the passing of large volumes of dilute urine. Three years previously he had developed diabetes mellitus and hypogonadotrophic hypogonadism. Investigation on recovery showed underlying haemochromatosis and aldosterone deficiency.

Aldosterone↗
PubMed1985

Preoperative percutaneous localisation of parathyroid tumours: a preliminary report.

Uncomplicated bilateral percutaneous subclavian venous sampling for parathormone estimation was performed preoperatively in 10 patients with primary hyperparathyroidism. In 7 cases there was correlation of the higher parathormone level with the side of the parathyroid tumour subsequently found at operation. In conjunction with the "Tibblin strategy of unilateral parathyroidectomy" (1) a dual approach is suggested that may provide a simple, accurate method of treating patients with hyperparathyroidism.

Adenoma↗